OBJECTIVE To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. METHODS In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentin...

Carbonic anhydrases (CAs) play fundamental roles in several physiological events, and emerging evidence points at their involvement in an array of disorders, including cancer. The expression of CAs in the different cells of teeth is unknown, let alone their expression patterns during odontogenesis. As a first step towards understanding the role of CAs during odontogenesis, we used immunohistoch...

Amelogenesis imperfecta represents a broad spectrum of genetic diseases affecting enamel formation in both deciduous and permanent dentition. This paper describes different phenotypes of amelogenesis imperfecta in deciduous, mixed and permanent dentition and treatment options, including a novel treatment possibility for extracted anterior deciduous teeth. The results showed that diagnosis and t...

Basilar impression is a well-recognised though rare complication of osteogenesis imperfecta. Three patients, all members of the same family, with advanced basilar impression complicating osteogenesis imperfecta tarda, are described. The clinical features in these cases illustrate the natural history of this condition: from asymptomatic ventricular dilatation, through the foramen magnum compress...

We report a unique case of unilateral cerebellar hypoplasia in a young Chinese girl with osteogenesis imperfecta type IV. Magnetic resonance imaging showed mild basilar invagination and impression. Although unilateral cerebellar hypoplasia and osteogenesis imperfecta may have been coincidental diagnoses, we propose possible mechanisms for unilateral cerebellar hypoplasia secondary to osteogenes...

Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta Braz Dent J 2016; 27(3): 359-362 Oral Health-Related Quality of Life Before and After Crown Therapy in Young Patients with Amelogenesis Imperfecta Health Qual Life Outcomes 2015; (13): 197 Amelogenesis Imperfecta: Rehabilitation and Brainstorming on the Treatment Outcome after the First Year Case Rep Dent (2015) Art ID 57916...

Amelogenesis imperfecta is an abnormal formation of the enamel. This anomaly associated with malformation of proteins, such as ameloblastin, enamelin, tuftelin and amelogenin. A few study report, mutation in the AMELX, ENAM, MMP20 and KLK-4 genes have been found to cause amelogenesis imperfecta. Mutations of AMELX, ENAM, MMP20 and KLK-4 genes will alter the structure of protein, that are essent...

introduction: dentin dysplasia is a rare autosomal dominant inheriting disturbance of dentin formation characterized by normal enamel formation, but atypical dentin with abnormal pulpal morphology. there are two major patterns: type i and type ii. amelogenesis imperfecta is an autosomal dominant. x-link inherent disease that is classified by clinical manifestation into hypoplastic, hypomature, ...